Q19P (p.Gln19Pro) variant of CLCNKB (Chloride channel protein ClC-Kb)
Q19P (p.Gln19Pro) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q19P (p.Gln19Pro) variant details
- p.Gln19Pro
- gnomAD 1-16044548-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.26
- CADD 0.60
- PolyPhen-2 0.11
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available